| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Anemia, Steroid-responsive anemia |
OMIM:618312 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Diamond-Blackfan Anemia-Like |
|
Pure red cell aplasia, Steroid-responsive anemia |
OMIM:617911 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Pallor |
ORPHA:46532 |
| Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly |
OMIM:618963 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... |
OMIM:237800 |
| Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... |
OMIM:613673 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... |
OMIM:615285 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... |
OMIM:202700 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... |
ORPHA:75564 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... |
OMIM:615631 |
| Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Trimethylaminuria |
|
Neutropenia, Anemia, Splenomegaly |
OMIM:602079 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Anemia, Methemoglobinemia |
OMIM:613977 |
| Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit... |
ORPHA:86841 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... |
OMIM:224120 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... |
ORPHA:766 |
| Glutamate-Cysteine Ligase Deficiency |
|
Reticulocytosis, Jaundice, Hepatosplenomegaly, Hemolytic anemia |
ORPHA:33574 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
| Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
| Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Polycythemia Vera |
|
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... |
OMIM:263300 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| Apolipoprotein A-I Deficiency |
|
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly |
ORPHA:425 |
| Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... |
OMIM:187950 |
| Juvenile Arthritis |
|
Leukocytosis, Thrombocytosis |
OMIM:618795 |
| Diamond-Blackfan Anemia 13 |
|
Elevated red cell adenosine deaminase level, Normocytic anemia |
OMIM:615909 |
| X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
| Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node... |
OMIM:209950 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Thrombocytosis, Microcytic anemia, Pancytopenia, Sterile abscess, Hepatosplenomegaly |
OMIM:604416 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin |
ORPHA:231393 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia |
ORPHA:231401 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... |
OMIM:603552 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poiki... |
OMIM:615234 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
| Sickle Cell Anemia |
|
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... |
ORPHA:232 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Reticuloendotheliosis, X-Linked |
|
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:312500 |
| Refractory Anemia |
|
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... |
ORPHA:98826 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly |
OMIM:611490 |
| Specific Granule Deficiency 2 |
|
Thrombocytopenia, Absent neutrophil specific granules, Neutropenia, Anemia |
OMIM:617475 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hepatomeg... |
OMIM:616689 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Neutropenia, Anemia |
OMIM:614082 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Abnormality of the liver, Anemia |
OMIM:206100 |
| Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... |
ORPHA:521 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... |
ORPHA:3203 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... |
OMIM:614470 |
| Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:617907 |
| Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:617980 |
| Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of inadequate production,... |
OMIM:617780 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Thrombocytopenia, Hepatosplenomegaly, Anemia |
OMIM:610539 |
| Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... |
OMIM:206000 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis |
OMIM:612690 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly |
OMIM:314050 |
| Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
| Cryohydrocytosis |
|
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly |
OMIM:185020 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... |
OMIM:619041 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis |
OMIM:612653 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... |
OMIM:133180 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
| Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Pallor, Splenomegaly |
ORPHA:228312 |
| Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Prolonged neonatal jaundice, Hepatomegaly, Splenomegaly |
OMIM:618892 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
| Primary Myelofibrosis |
|
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... |
ORPHA:824 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
| Cernunnos-Xlf Deficiency |
|
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia |
ORPHA:169079 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:185000 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia |
OMIM:619281 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... |
OMIM:235700 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis |
OMIM:182900 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... |
OMIM:300908 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies |
OMIM:140700 |
| Glut1 Deficiency Syndrome 2 |
|
Reticulocytosis |
OMIM:612126 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... |
ORPHA:444463 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
| Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:611783 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
| Eosinophilia, Familial |
|
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia |
OMIM:131400 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... |
OMIM:159550 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
| Dehydrated Hereditary Stomatocytosis |
|
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... |
ORPHA:3202 |
| Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia, Anemia |
OMIM:608898 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia |
OMIM:615214 |
| Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... |
OMIM:109270 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Thrombocytopenia, Anemia, Pallor, Eosinophilia |
ORPHA:517 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Reticulocytosis, Decreased mean corpuscular volume, Hepatosplenomegaly, Hemolytic anemia |
OMIM:611590 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Sitosterolemia 1 |
|
Impaired platelet aggregation, Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosi... |
OMIM:210250 |
| Pancytopenia And Occlusive Vascular Disease |
|
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia |
OMIM:167850 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia |
OMIM:612527 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... |
OMIM:194380 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... |
OMIM:300835 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... |
ORPHA:288 |
| Neutropenia, Severe Congenital, X-Linked |
|
Neutropenia |
OMIM:300299 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Reticulocytosis, Hemolytic anemia |
OMIM:300653 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly |
OMIM:266200 |
| Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
| Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Neutropenia, Anemia |
OMIM:616740 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
| Congenital Atransferrinemia |
|
Abnormality of the pancreas, Anemia |
ORPHA:1195 |
| Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Chol... |
OMIM:232800 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Anemia |
OMIM:273680 |
| Thrombocytopenia 5 |
|
Thrombocytopenia, Neutropenia, Anemia |
OMIM:616216 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia |
OMIM:613501 |
| Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia |
OMIM:153550 |
| X-Linked Sideroblastic Anemia |
|
Pallor, Elevated hepatic transaminase, Anemia, Splenomegaly |
ORPHA:75563 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Fanconi Anemia, Complementation Group V |
|
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia |
OMIM:617243 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... |
OMIM:150550 |
| Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... |
ORPHA:822 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia |
OMIM:615715 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
| Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Lymphopenia, Decreased CD4:CD8 ratio,... |
OMIM:615897 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... |
ORPHA:846 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:618495 |
| Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia |
OMIM:598500 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:618852 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
| Acute Erythroid Leukemia |
|
Erythroid hypoplasia, Pancytopenia, Leukopenia, Anemia, Bone marrow hypocellularity |
ORPHA:318 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancreatitis, Anemia |
ORPHA:79312 |
| Nephronophthisis |
|
Anemia |
ORPHA:655 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy |
ORPHA:100024 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
| Elliptocytosis 2 |
|
Reticulocytosis, Hemolytic anemia, Elliptocytosis |
OMIM:130600 |
| Hemochromatosis, Type 3 |
|
Cirrhosis, Anemia, Neutropenia, Lymphopenia |
OMIM:604250 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly |
OMIM:615085 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... |
OMIM:619220 |
| Thrombocytopenia 4 |
|
Thrombocytopenia |
OMIM:612004 |
| Beta-Thalassemia |
|
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... |
ORPHA:848 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia |
OMIM:616738 |
| Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... |
OMIM:617514 |
| 3-Methylglutaconic Aciduria, Type Vii |
|
Neutropenia |
OMIM:616271 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Reticulocytosis, Hemolytic anemia, Decreased hemoglobin concentration |
ORPHA:713 |
| Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
| Elliptocytosis 1 |
|
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly, Pallor |
OMIM:611804 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
| Immunodeficiency 55 |
|
Neutropenia, Lymphadenopathy |
OMIM:617827 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Folate Malabsorption, Hereditary |
|
Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia, Leukopenia |
OMIM:229050 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Neutropenia, Thrombocytopenia, Hepatomegaly, Pancreatitis, Anemia |
ORPHA:289916 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... |
OMIM:618849 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia |
OMIM:124900 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia, Jaundice, Pancytopenia, Hepatomegaly, Pallor |
OMIM:613839 |
| Ataxia-Pancytopenia Syndrome |
|
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... |
ORPHA:2585 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy |
OMIM:618987 |
| Idiopathic Aplastic Anemia |
|
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Bone marrow hypocellularity |
ORPHA:88 |
| Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
| Immunodeficiency 21 |
|
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... |
OMIM:614172 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Abnormal thrombocyte morphology, Splenomegaly |
ORPHA:721 |
| Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... |
OMIM:618204 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy |
OMIM:613101 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... |
OMIM:308240 |
| Transcobalamin Deficiency |
|
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia |
ORPHA:859 |
| Thrombocytopenia 2 |
|
Thrombocytopenia |
OMIM:188000 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Immunodeficiency 76 |
|
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy |
OMIM:619164 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Ascites, Anemia, Splenomegaly, Lymphadenopathy |
ORPHA:100025 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Cirrhosis, Anemia, Splenomegaly |
OMIM:613313 |
| Fanconi Anemia, Complementation Group T |
|
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia, Anemia |
OMIM:616435 |
| Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly |
OMIM:608971 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Neutropenia, Microcytic anemia |
OMIM:251900 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Thrombocytopenia, Chronic neutropenia |
OMIM:619301 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Letterer-Siwe Disease |
|
Neutropenia, Thrombocytopenia, Jaundice, Anemia, Hepatosplenomegaly |
OMIM:246400 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin, Pallor |
ORPHA:163596 |
| Developmental And Epileptic Encephalopathy 66 |
|
Neutropenia, Anemia |
OMIM:618067 |
| Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Neutropenia, Anemia, Anemia of inadequate production |
OMIM:614900 |
| Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Lymphopenia, Paratracheal lymphadenopathy, Follicular hyperplasia, Anemia, Leukop... |
OMIM:615934 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Autoimmune Lymphoproliferative Syndrome |
|
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... |
OMIM:601859 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia |
OMIM:613502 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Abnormal thrombocyte morphology, Asplenia, Anemia |
ORPHA:3204 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia |
OMIM:616176 |
| Aggressive Systemic Mastocytosis |
|
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... |
ORPHA:98850 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... |
OMIM:187800 |
| Aregenerative Anemia |
|
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... |
ORPHA:101096 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Hypochromia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia, Sple... |
OMIM:616860 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Neutropenia, Anemia |
OMIM:617056 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Abnormal thromboc... |
OMIM:612840 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Ascites, Anemia |
ORPHA:295 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... |
OMIM:619375 |
| Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:231900 |
| Myelolymphatic Insufficiency |
|
Hyposegmentation of neutrophil nuclei, Leukopenia |
OMIM:310350 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Chronic hemolytic anemia, Hepatocellular necrosis, Elliptocytosis, Reticulocytosis, Hepatomegaly,... |
OMIM:618278 |
| Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Macrocytic anemia, Leukopenia, Reticulocytopenia |
OMIM:612528 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules |
ORPHA:238459 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
| Glutathione Peroxidase Deficiency |
|
Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod... |
OMIM:300751 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly |
OMIM:607685 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypochromic anemia, Pappenheimer bodies, Microcytic anemia, Erythroid hyperplasia, Sideroblastic ... |
OMIM:600462 |
| Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
| Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79477 |
| Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
| Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Aplastic anemia, Ane... |
ORPHA:398124 |
| Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
| Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
| Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, He... |
ORPHA:507 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... |
ORPHA:231154 |
| Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Normochromic anemia, Macrocytic anemia, Reticulocyto... |
OMIM:615550 |
| Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy |
ORPHA:37748 |
| Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities |
|
Hepatosplenomegaly, Hemolytic anemia, Ascites |
OMIM:600461 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Lymphadenopathy, Thro... |
OMIM:304790 |
| Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia |
ORPHA:32 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Lymphadenopathy, Thrombocytopenia, Hypoplasia of the thymus, B lymphocy... |
OMIM:603554 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Anemia, Splenomegaly |
OMIM:618107 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Jaundice, Prolonged neonata... |
OMIM:274150 |
| Felty Syndrome |
|
Abnormal lymphocyte morphology, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly... |
ORPHA:47612 |
| Malaria |
|
Thrombocytopenia, Anemia |
ORPHA:673 |
| Erythrocytosis, Familial, 8 |
|
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... |
OMIM:222800 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... |
OMIM:619130 |
| Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
T lymphocytopenia, Monocytopenia, Lymphadenitis, Lymphopenia, Abnormally low T cell receptor exci... |
OMIM:618986 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Thrombocytosis, Ascites, Hepatomegaly |
OMIM:226300 |
| Cold Agglutinin Disease |
|
Hepatomegaly, Hemolytic anemia, Pallor, Splenomegaly |
ORPHA:56425 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... |
OMIM:612541 |
| Immunodeficiency 48 |
|
Hepatomegaly, Splenomegaly |
OMIM:269840 |
| Immunodeficiency 13 |
|
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... |
OMIM:615518 |
| Immunodeficiency 14A, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... |
OMIM:615513 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Hepatomegaly |
OMIM:607616 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... |
ORPHA:67044 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Chronic myelogenous leukemia, Thrombocytosis, Splenomegaly |
ORPHA:71493 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
| Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Hemolytic anemia |
OMIM:614034 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, Thrombocytope... |
OMIM:308230 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:230450 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Neutropenia, Umbilical hernia, Thrombocytopenia, Anemia, Bone marrow hypocellularity |
OMIM:614520 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
| Beta-Thalassemia Intermedia |
|
Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Hepatocellula... |
ORPHA:231222 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Anemia |
OMIM:610090 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Anemia |
OMIM:618165 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Abnormal erythrocyte morphology, Anisocytosis, Anemia, Increased m... |
ORPHA:98870 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... |
OMIM:603909 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Thrombocytopenia, Neutropenia, Anemia |
OMIM:614857 |
| Lcat Deficiency |
|
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly |
ORPHA:650 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Monocytosis, Acute myeloid leukemia, Leukopenia, Refractory anemia, Bone marrow hypocellularity |
OMIM:616871 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis |
OMIM:235400 |
| Poikiloderma With Neutropenia |
|
Neutropenia, Splenomegaly |
OMIM:604173 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
| Bone Marrow Failure Syndrome 4 |
|
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia |
OMIM:618116 |
| Immunodeficiency 47 |
|
Cirrhosis, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jaundice, Leukopenia, Splenomegaly |
OMIM:300972 |
| Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... |
OMIM:618534 |
| Evans Syndrome |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... |
ORPHA:1959 |
| X-Linked Agammaglobulinemia |
|
Neutropenia, Thrombocytopenia, Hepatitis, Recurrent cutaneous abscess formation, Anemia, Abnormal... |
ORPHA:47 |
| Gaucher Disease, Type Ii |
|
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly |
OMIM:230900 |
| Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... |
ORPHA:169154 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Reticulocytopenia, Anisopoikilocytosis, Dysplastic erythropoesis, ... |
ORPHA:300298 |
| Chediak-Higashi Syndrome |
|
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... |
OMIM:214500 |
| Hemolytic Anemia, Congenital, X-Linked |
|
Jaundice, Hemolytic anemia |
OMIM:301015 |
| Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
| Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Pallor |
ORPHA:90064 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Liver abscess, Abnormality of the pancreas, Anemia, Neutrophilia, Abnormality of the lymphatic sy... |
ORPHA:54251 |
| Babesiosis |
|
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly |
ORPHA:108 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neutropenia, Umbilical hernia,... |
OMIM:169400 |
| Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia |
OMIM:618015 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Ascites, Anemia, Splenomegaly |
ORPHA:1046 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells |
OMIM:615607 |
| Majeed Syndrome |
|
Microcytic anemia, Erythroid hyperplasia, Anemia of inadequate production, Decreased mean corpusc... |
OMIM:609628 |
| Kasabach-Merritt Syndrome |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Abnormal lymphatic vessel morphology, Neutrop... |
ORPHA:2330 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Thrombocytosis, Leukocytosis, Lymphopenia, Pancytopenia, Hepatomegaly, Splenomegaly, Anemia, Leuk... |
OMIM:615688 |
| Lymphoproliferative Syndrome 1 |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... |
OMIM:613011 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
| Cyclic Neutropenia |
|
Peritonitis, Recurrent tonsillitis, Decreased eosinophil count, Lymphopenia, Tooth abscess, Lymph... |
ORPHA:2686 |
| Retinohepatoendocrinologic Syndrome |
|
Degenerative liver disease, Pallor |
OMIM:268040 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly |
OMIM:618398 |
| Glutamate Formiminotransferase Deficiency |
|
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:229100 |
| Acute Promyelocytic Leukemia |
|
Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Anemia, Leukopenia, Lymphadenopathy |
ORPHA:520 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
| Specific Granule Deficiency 1 |
|
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... |
OMIM:245480 |
| Barth Syndrome |
|
Granulocytopenia, Neutropenia |
OMIM:302060 |
| Autoerythrocyte Sensitization Syndrome |
|
Thrombocytosis, Impaired platelet adhesion, Abnormal erythrocyte morphology, Autoimmune thrombocy... |
ORPHA:324636 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
| Atransferrinemia |
|
Hypochromic anemia, Abnormality of the liver |
OMIM:209300 |
| Hyperlysinemia, Type I |
|
Anemia |
OMIM:238700 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... |
OMIM:607594 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis |
OMIM:247800 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia |
OMIM:617248 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... |
OMIM:615559 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Anemia of inadeq... |
OMIM:612714 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... |
OMIM:619271 |
| Transaldolase Deficiency |
|
Thrombocytopenia, Cirrhosis, Hepatosplenomegaly, Anemia |
ORPHA:101028 |
| Transcobalamin Ii Deficiency |
|
Pancytopenia, Macrocytic anemia, Neutropenia, Reticulocytopenia |
OMIM:275350 |
| Reticular Dysgenesis |
|
Abnormality of neutrophils, Anemia, Aplasia/Hypoplasia of the thymus, Leukopenia |
ORPHA:33355 |
| Adult Idiopathic Neutropenia |
|
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia |
ORPHA:2688 |
| Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly |
OMIM:610333 |
| Cogan Syndrome |
|
Leukocytosis, Thrombocytosis, Anemia |
ORPHA:1467 |
| Methylmalonic Aciduria, Cblb Type |
|
Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia |
OMIM:251110 |
| Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... |
OMIM:619126 |
| Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
| Autoimmune Hemolytic Anemia |
|
Abnormal leukocyte morphology, Hemolytic anemia, Pallor, Splenomegaly |
ORPHA:98375 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia |
OMIM:610629 |
| Wolman Disease |
|
Bone-marrow foam cells, Hepatomegaly, Ascites, Anemia, Splenomegaly |
ORPHA:75233 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Iron deficiency anemia, Portal hypertension, Hepatomegaly, Jaundice, Hepatic fibrosis, Splenomega... |
OMIM:616278 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, Lymphopenia, Absence of lymph node germinal center, B lymphocytopenia |
ORPHA:277 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly |
OMIM:615947 |
| Congenital Toxoplasmosis |
|
Thrombocytopenia, Jaundice, Hepatomegaly, Cardiomegaly, Anemia, Ascites, Lymphadenopathy |
ORPHA:858 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
| Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Neutropenia |
OMIM:601495 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... |
OMIM:613470 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD4:C... |
OMIM:300853 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Cholestatic liver diseas... |
ORPHA:540 |
| Sea-Blue Histiocytosis |
|
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:158029 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Neutropenia |
OMIM:618752 |
| Gamma-Heavy Chain Disease |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... |
ORPHA:100026 |
| Congenital Enterovirus Infection |
|
Leukocytosis, Abnormal macrophage morphology, Neutropenia, Fetal ascites, Cholestasis, Thrombocyt... |
ORPHA:292 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia, Macrothrombocytopenia |
OMIM:603585 |
| Senior-Loken Syndrome 1 |
|
Anemia |
OMIM:266900 |
| Isolated Agammaglobulinemia |
|
Abnormality of neutrophils, Abnormal lymphocyte morphology, Thrombocytopenia, Recurrent cutaneous... |
ORPHA:229717 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume |
OMIM:252270 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Splenomegaly |
OMIM:618541 |
| Methylmalonic Aciduria, Cbla Type |
|
Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia |
OMIM:251100 |
| Amed Syndrome, Digenic |
|
Thrombocytopenia, Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity |
OMIM:619151 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Decreased proportion... |
ORPHA:3261 |
| Cinca Syndrome |
|
